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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-112912991-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112912991&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112912991,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000202917.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "NM_016816.4",
"protein_id": "NP_058132.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": "ENST00000202917.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000202917.10",
"protein_id": "ENSP00000202917.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": "NM_016816.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000445409.7",
"protein_id": "ENSP00000388001.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000540589.3",
"protein_id": "ENSP00000474083.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000452357.7",
"protein_id": "ENSP00000415721.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": -4,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000552526.2",
"protein_id": "ENSP00000475139.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000551241.6",
"protein_id": "ENSP00000448790.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "n.2316G>C",
"hgvs_p": null,
"transcript": "ENST00000681436.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "NM_001032409.3",
"protein_id": "NP_001027581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000679494.1",
"protein_id": "ENSP00000505090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000679987.1",
"protein_id": "ENSP00000504970.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 407,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.630+1733G>C",
"hgvs_p": null,
"transcript": "NM_001406020.1",
"protein_id": "NP_001392949.1",
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.669+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000679467.1",
"protein_id": "ENSP00000506593.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
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"transcript": "ENST00000680189.1",
"protein_id": "ENSP00000505572.1",
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},
{
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],
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"gene_symbol": "OAS1",
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"hgvs_c": "c.630+1733G>C",
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"transcript": "NM_001406021.1",
"protein_id": "NP_001392950.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "OAS1",
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"hgvs_c": "c.630+1733G>C",
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"transcript": "ENST00000681700.1",
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},
{
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],
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"gene_symbol": "OAS1",
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"hgvs_c": "c.654+1756G>C",
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"transcript": "NM_001406022.1",
"protein_id": "NP_001392951.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "ENST00000553152.2",
"protein_id": "ENSP00000449053.2",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "OAS1",
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"hgvs_c": "c.630+1733G>C",
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"transcript": "NM_001406023.1",
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},
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],
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"gene_symbol": "OAS1",
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},
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"strand": true,
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],
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"gene_symbol": "OAS1",
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},
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.654+1756G>C",
"hgvs_p": null,
"transcript": "NM_001320151.2",
"protein_id": "NP_001307080.1",
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.630+1733G>C",
"hgvs_p": null,
"transcript": "NM_001406024.1",
"protein_id": "NP_001392953.1",
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"mane_select": null,
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}